GBA2 wt Allele

Preferred Label : GBA2 wt Allele;

NCIt synonyms : DKFZp762K054; AD035; KIAA1605; Glucosidase, Beta (Bile Acid) 2 Gene; Glucosylceramidase Beta 2 wt Allele;

NCIt definition : Human GBA2 wild-type allele is located in the vicinity of 9p13.3 and is approximately 13 kb in length. This allele, which encodes non-lysosomal glucosylceramidase protein, is involved in the generation and prevention of glycolipid accumulation and bile acid hydrolysis.;

GenBank Accession Number : AJ309567;

Details

Origin ID

C104425;

UMLS CUI

C3541289;

Automatic exact mappings (from CISMeF team)
- Glucosidase, beta, acid 2 [OMIM gene]
- glucosylceramidase beta 2 [ORDO Gene]
OMIM relation
- Glucosidase, beta, acid 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Glycoprotein Degradation Pathway [NCIt concept]
- Sphingolipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Neural Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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